Search results for " Epilepsy"
showing 10 items of 152 documents
Antiepileptic drug use in nursing home residents: a cross-sectional, regional study.
2006
Summary The use of antiepileptic drugs (AED), their primary indication, comorbid conditions, and concomitant medications were collected from 565 nursing homes (NH) residents of six NH located around the city of Mainz, Germany representing 5.05% of all NH residents in the area. Data were collected from the electronic pharmacy files and by reviewing all available medical records. Average age was 82.2±2.4 years, 85.5% were women. Of 565 NH residents 28 (4.96%) received AED therapy, of which in 17 (63%) AED were prescribed for a seizure-related diagnosis. In 76.5% seizure types were unspecified and a distinction in focal and generalized epilepsy was made in only 23.5% of patients. Three patient…
Interictal cardiorespiratory variability in temporal lobe and absence epilepsy in childhood
2015
It is well known that epilepsy has a profound effect on the autonomic nervous system, especially on the autonomic control of heart rate and respiration. This effect has been widely studied during seizure activity, but less attention has been given to interictal (i.e. seizure-free) activity. The studies that have been done on this topic, showed that heart rate and respiration can be affected individually, even without the occurrence of seizures. In this work, the interactions between these two individual physiological variables are analysed during interictal activity in temporal lobe and absence epilepsy in childhood. These interactions are assessed by decomposing the predictive information …
No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures
2005
A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12 Italian multiplex families with pure BFIC, who were negative for mutations in the SCN2A gene. We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern. We found one exonic variant and five intronic variants, none leading to significant amino ac…
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
2006
Summary: Purpose: Benign familial infantile seizures (BFIS) is a genetically heterogeneous condition characterized by partial seizures, onset age from 3 to 9 months, and favorable outcome. BFIS loci were identified on chromosomes 19q12-13.1 and 16p12-q12, allelic to infantile convulsions and choreathetosis. The identification of SCN2A mutations in families with only infantile seizures indicated that BFNIS and BFIS may show overlapping clinical features. Infantile seizures also were in a family with familial hemiplegic migraine and mutations in the ATP1A2 gene. We have examined the heterogeneous genetics of BFIS by means of linkage analysis. Methods: Sixteen families were examined. Probands …
Molecular chaperones and mirnas in epilepsy: Pathogenic implications and therapeutic prospects
2021
Epilepsy is a pathologic condition with high prevalence and devastating consequences for the patient and its entourage. Means for accurate diagnosis of type, patient monitoring for predicting seizures and follow up, and efficacious treatment are desperately needed. To improve this adverse outcome, miRNAs and the chaperone system (CS) are promising targets to understand pathogenic mechanisms and for developing theranostics applications. miRNAs implicated in conditions known or suspected to favor seizures such as neuroinflammation, to promote epileptic tolerance and neuronal survival, to regulate seizures, and others showing variations in expression levels related to seizures are promising ca…
Blockade of astrocytic activation delays the occurrence of severe hypoxia-induced seizure and respiratory arrest in mice
2020
Seizures are induced when subjects are exposed to severe hypoxia. It is followed by ventilatory fall-off and eventual respiratory arrest, which may underlie the pathophysiology of death in patients with epilepsy and severe respiratory disorders. However, the mechanisms of hypoxia-induced seizures have not been fully understood. Because astrocytes are involved in various neurological disorders, we aimed to investigate whether astrocytes are operational in seizure generation and respiratory arrest in a severe hypoxic condition. We examined the effects of astrocytic activation blockade on responses of EEG and ventilation to severe hypoxia. Adult mice were divided into two groups; in one group …
Evidences of cannabinoids-induced modulation of paroxysmal events in an experimental model of partial epilepsy in the rat
2010
Different studies have been shown a clear anticonvulsant activity exerted by cannabinoids (CB) through the CB1 receptor activation. The purpose of this study was to evaluate, in an in vivo experimental model of temporal lobe epilepsy (maximal dentate gyrus activation - MDA) in the rat, the protective effect of (R)-(+)-[2,3-Dihydro-5-methyl-3-(4-morpholinylmethyl) pyrrolo[1,2,3-de]-1,4-benzoxazin-6-Yl]-1-naphthalenylmethanone (WIN 55,212-2, CB agonist) alone or in combination with N-(piperidin-1-yl)-5-(4-iodophenyl)-1-(2,4-dichlorophenyl)-4-methyl-1H-pyrazole-3-carboxamide (AM251, selective CB1 antagonist). Pre-treatment with AM251 (1 mg kg-1, 30 min interval) dramatically reduced the signif…
Ring 17 syndrome: first clinical report without intellectual disability
2015
Ring chromosomes are rare abnormalities caused by the fusion of the telomeric regions. Three-ring chromosome syndromes (Cr 20, Cr 17 and Cr 14) cause epilepsy with variable phenotypes. In ring 17 patients with mild phenotype, some authors have shown an epilepsy syndrome similar to that of ring 20. We report the first case of a girl with ring chromosome 17 and a normal neurological and general cognitive profile. She had had, from 9 years old, focal pharmacoresistant epilepsy associated with episodes of non-convulsive status epilepticus with mainly autonomic features. Cytogenetic analysis revealed an abnormal karyotype characterised by the presence of de novo ring chromosome 17 in 19% of meta…
The analysis of SUDEP forensic autopsies leading to preventable events
2023
Introduction: The diagnosis of unexpected death by excluding non-natural causes, particularly in subjects with epilepsy, is a topic of interest and it is difficult to identify in the forensic field. Health professionals sometimes are faced with cases of sudden death, generally in young adults with a long history of epilepsy that require, for judicial purposes, an explanation in terms of cause and means to determine the death. SUDEP is an entity diagnosed by the exclusion of other causes that may have led to death, and then for forensic purposes, it requires particular attention and knowledge, and there is difficulty in identifying it. Our contribution aims to illustrate the scientific commu…
Ketogenic diet as antiepileptic therapy: Neurotrasmission effects
2017
The Ketogenic diet (KD) presents many effects on neurostrasmitters pathways. KD may act on potassium channels sensitive to ATP (KATP), inhibiting rapamycin pathway in mammalians or glutamatergic synaptic transmission or mediated by peptide hormones.